Papers
RefSeq ID
Protein change
DNA change
1–12 of 228 variants
NM_001235.5
p.L78P
c.233T>C
NM_001235.5
p.L326P
c.977T>C
NM_001235.5
p.M237T
c.710T>C
NM_001235.5
p.R405H
c.1214G>A
NM_001235.5
p.L50R
c.149T>G
NM_001235.5
p.E105_A109del0
c.314_325del12
NM_001235.5
p.R222S
c.664C>A
NM_001235.5
p.L78L
c.234A>G
NM_001235.5
p.L200L
c.598C>T
NM_001235.5
p.R415*
c.1243C>T
NM_001235.5
p.A40V
c.119C>T
NM_001235.5
p.H108del1
c.322_323delCAC